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Reliant Cancer Screen
review on September 29, 2017
by Craig Macpherson
At a Glance
Summary
Counsyl’s ‘Reliant Cancer Screen’ test provided me with a valuable reassurance that I’m not at an increased risk of developing some of the most common types of cancer, whilst making it clear that this wasn’t the same as having a decreased risk. There was a lot of information available before ordering, not only about the test and results, but also the associated implications. Although the ordering process was a little complicated, having a doctor involved did make the results feel more trustworthy.
I was impressed by the professional format and clear explanations within the main report, though there was also quite a lot of information that was too complex for me to understand. However, the inclusion showed a level of transparency about the process which further increased my trust in the results and I would recommend this test to those that are interested in finding out about their genetic predisposition to cancer.
Full Review
Counsyl is a DNA testing company that specializes in screening for health conditions that may develop in future. Their services range from carrier screening to prenatal and cancer predisposition testing, all with a focus on conditions where understanding the genetic risk allows individuals to take proactive, preventative measures. The company has already screened half a million people and have received funding from many companies, including Goldman Sachs.
As I’m not planning to have children any time soon, I was most interested in the tests that would tell me about my own potential health problems, rather than the carrier or prenatal ones. I decided to take Counsyl’s ‘Reliant Cancer Screen’, which would tell me about my risk of developing various types of cancer.
Product Expectations
I found the Counsyl website really informative when researching the Reliant Cancer Screen. I learned that the test would screen up to 36 genes for variants associated with a higher risk of developing cancer. There was a full page dedicated to what they would test for, which revealed that there were several different panels available, rather than just one standard Reliant Cancer Screen. However, although this seemed confusing at first, there was a ‘Comprehensive Panel’ that included 29 of the genes, and this could be extended by adding the ‘Expanded Panel’ which included seven more (to reach the full 36).
The Expanded Panel mainly included genes associated with breast and ovarian cancer, as well as neuroendocrine cancers. Since I’m male, I didn’t see the need to add this, so decided to go with the comprehensive panel. Other options included a ‘BRCA panel’ which just screened the BRCA1 and BRCA2 genes and a ‘Melanoma Panel’ which would look at genes associated with skin cancer (BRCA2, CDK4, CDKN2A). There were 10 options in total, providing lots of choice in terms of what types of cancer were screened for.
As well as the written information, there was an informative video that explained almost every aspect of the test. This included information about the science behind the analysis, what to expect at each stage of the process and information about how to use health insurance to cover the cost. I was impressed that they even outlined the possible implications of discovering a genetic predisposition on my access to insurance. I was pleased to find out that even if I used my health insurance to cover the cost of the testing, GINA and HIPAA meant that my health insurer would not have access to the results and could not use it to deny me insurance or increase the cost of my premiums. However, it was pointed out that these protections didn’t extend to life insurance.
There were several different policies available to view on Counsyl’s website. As well as the normal terms and conditions and privacy policy, I was able to read their ‘Conduct and Ethics’ policy, and informed consent forms for all of the tests they sell. Looking at the one for the Reliant Cancer Screen, I read that my sample could be used for internal research purposes unless I asked them not to. I was pleased that I could opt out of this, but there was also a section that stated that my de-identified information could be shared in external databases, with no option to opt out.
Ordering Experience
The ordering experience was a bit more complicated than for most home DNA tests. One reason for this was the fact that I had the option to use my health insurance to cover the cost. I decided against this, so paid upfront for the test. However, rather than purchasing it directly from Counsyl, I had to get a healthcare practitioner to approve and order it for me. I located a genetic counselor (who was also a qualified physician), who sent in the relevant forms for me, following a short phone consultation (around half an hour). I had to pay for the doctor’s time, but he was thorough and professional and overall the process went smoothly.
It was a bit confusing trying to find a doctor and working out what I needed him to do to order the test, but once I received the kit, the process was pretty standard. The kit itself was quite large, so I was relieved to see that return packaging had been included, with postage already paid. There were plenty of instructions and tips, included in the box and online, about how to take the sample. It didn’t take long to provide enough saliva to the line in the tube and it was easy to register my kit online and organize a FedEx pickup.
The Results
My results arrived about two weeks later and were first sent to the doctor, who assessed and then released them to me. I was a bit nervous about opening them, as the requirement for a doctor’s involvement made them seem a bit more official. However, I was reassured by the fact that my results had been released to me without the need for another consultation.
I was able to view my results via the account I’d set up when registering my kit. The outcome wasn’t shown immediately, but there was a ‘View results’ button which revealed I had ‘No increased risk to highlight’, referred to as a ‘Negative’ result (shown below).
My result, shown in my online account.
I was relieved and appreciated that this had been so clearly displayed. Although I was interested in looking through the full report, I had worried I might have to scroll right through it to find the basic answer to the question of whether or not I was at an increased risk of cancer.
Results Section: About This Test, Summary, and Next Steps
The format of the results looked like a medical report, and started with the information I’d provided or knew before ordering the test. This included details about myself, the doctor who’d ordered the test and the genes tested. This page also provided another summary of my negative result (shown below).
My Results Summary.
Beneath this summary was a ‘Next Steps’ section, which in my case advised me that genetic counselling was available if I wanted it. I didn’t feel that I needed it, especially as my result was negative, but imagine this would have been useful for those that had received a positive result. Although this section itself didn’t provide much information on how to go about booking a genetic counselling session, I was given plenty of opportunities to do so through my online account, for example in the ‘My consults’ page (shown below).
The My Consults page in my online account.
Results Section: Clinical Notes
In my case (this may have been different for those with a positive result), the ‘Clinical Notes’ section provided information about ‘Variants of Unknown Significance’ (VUS). I had learnt a bit about these in the video I had watched before ordering the test and knew that they were basically variants of the gene whose impact on the risk of getting cancer had yet to be established. This expanded on that information, suggesting that although these variants weren’t recommended for ‘clinical management decisions’ it was worth making my doctor aware of them if I had a family history of cancer. However, they weren’t available in the report and had to be requested. As I don’t know of many cases of cancer in my family, I didn’t request this information.
Results Section: Explanations
The next part of the report provided more information about the interpretation and implications of the results. This started with an answer to the broad question ‘What does it mean to test negative?’. The question and its answer are shown below.
What does it mean to test negative?
I thought the answer was clear and concise, providing a basic and quick summary of the test result.
The following questions went into more detail. The answer to ‘What are the cancer risks associated with a negative result?’ explained that testing negative for the mutations screened for in this test wasn’t the same as having a decreased risk of cancer and provided a list of other factors involved. These included environmental aspects (though no specific examples were mentioned), mutations in genes not included in the test, VUS and even mutations in the genes screened in the test that weren’t detected.
The final two questions were about screening/risk-reducing measures and what the results would mean for my family. These didn’t really provide any extra information, as they just advised that I discuss preventative measures with my healthcare provider and suggested telling my family that I had participated in the testing. The implications of the results for my other members of my family was not particularly clear and I wasn’t sure whether my result meant that they were also more likely to have a negative result.
The last feature in this section was called ‘Resources’. This contained a link to the National Cancer Institute’s website, accompanied by a quote describing what they do in terms of cancer prevention, treatment, support, and rehabilitation.
Results Section: Methods and Limitations
The ‘Methods and Limitations’ section seemed a lot like something you’d expect to see in a scientific document. It described the specific sequencing method that had been used, but unfortunately it was written in a level of detail that was too complex for me to understand. This was mainly due to the scientific terms (eg. exons, proximal pseudogene) that I didn’t know and which weren’t explained further.
The Limitations part was slightly easier to decipher. It listed some of the reasons that someone might receive erroneous results, which included sample mix-up, trace contamination, blood transfusion, bone marrow transplant and technical errors. No details about the chance of these errors occurring were provided, so I wasn’t sure quite how worried I should be about this. They stated that the test wasn’t approved by the FDA, but I know this isn’t unusual, as most direct-to-consumer DNA tests have not gained this level of approval either. They were also CILA approved, which meant that they were deemed qualified to carry out high complexity clinical testing.
Although I didn’t understand much of this section overall, I appreciated that it was included, as it provided information that I thought my doctor might be able to use and the transparency of the process increased my trust in the results. The section was also signed off by a lab director, which added further to the confidence I had in the results.
Results Section: Conditions Tested
The final part of the report provided further detailed information about the conditions that had been tested for and the genes associated with them. Again, the details were a bit too complex for me to understand, but it was useful to have a list of the conditions and the specific genes that had been tested to assess my risk of them.
Summary
Counsyl’s ‘Reliant Cancer Screen’ test provided me with a valuable reassurance that I’m not at an increased risk of developing some of the most common types of cancer, whilst making it clear that this wasn’t the same as having a decreased risk. There was a lot of information available before ordering, not only about the test and results, but also the associated implications. Although the ordering process was a little complicated, having a doctor involved did make the results feel more trustworthy.
I was impressed by the professional format and clear explanations within the main report, though there was also quite a lot of information that was too complex for me to understand. However, the inclusion showed a level of transparency about the process which further increased my trust in the results and I would recommend this test to those that are interested in finding out about their genetic predisposition to cancer.